Open AccessMultiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype–phenotype correlation
Author(s) -
Outi Vierimaa,
Tapani Ebeling,
Soili Kytölä,
Risto Bloigu,
Eija Eloranta,
Jorma Salmi,
Eeva Korpi-Hyövälti,
Leo Niskanen,
A. Orvola,
E Elovaara,
A Gynther,
T Sane,
M Välimäki,
Jaakko Ignatius,
Jaakko Leisti,
Pasi Salmela
Publication year - 2007
Publication title -
european journal of endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.897
H-Index - 148
eISSN - 1479-683X
pISSN - 0804-4643
DOI - 10.1530/eje-07-0195
Subject(s) - men1 , missense mutation , frameshift mutation , multiple endocrine neoplasia , genotype , odds ratio , genetics , medicine , mutation , founder effect , nonsense mutation , biology , gastroenterology , oncology , haplotype , gene
The existence of genotype-phenotype correlation in multiple endocrine neoplasia type 1 (MEN1) is controversial. Two founder mutations of the MEN1 gene in Northern Finland gave us an opportunity to compare clinical features among heterozygotes of different mutations.
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